Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.S421delFs
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MLH1

NM_000249.4:p.S421delFs

Associated Papers

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MLH1

A rare large duplication of MLH1 identified in Lynch syndrome.

Kumar A et al.

Hereditary Cancer in Clinical Practice, 2021

Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.

Bujalkova M et al.

Clinical Chemistry, 2008

Redundant DNA methylation in colorectal cancers of Lynch-syndrome patients.

Alemayehu A et al.

Genes, Chromosomes & Cancer, 2008

Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia.

Bartosova Z et al.

Human Mutation, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."